Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “monogenic”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 253 records · Page 14Linked to original sources
PubMed1989

[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis].

In 170 inherited diseases there exists the possibility for diagnosis at the DNA level. Using phenylketonuria (PKU) and cystic fibrosis (CF) as examples we demonstrate the capability of direct and indirect DNA-diagnosis through the use of DNA markers and allelespecific oligonucleotide hybridization respectively. In 88% of our PKU-patients and in 98% of the CF-patients DNA linkage analysis and therefore prenatal diagnosis on the DNA level can be carried out in affected families. The reliability of DNA-diagnosis is 99.0% for PKU and between 96.0-99.99% for CF depending on where the DNA-markers are localized. In contrast to CF, the PKU gene has been isolated and distinct mutations within the phenylalanine hydroxylase gene have been characterized. There is evidence for a correlation between genotype and clinical and biochemical phenotype. Also in CF it is indicated that certain DNA haplotypes correlate with the severity of the disease: less frequent haplotypes seem to be more often associated with a milder course than haplotype "B/B" which represents 85% of the CF chromosomes. Therefore DNA diagnostic methods not only make a major contribution to improved genetic counseling but also offer the possibility for a better future understanding of the heterogeneity of genetic diseases.

Cystic Fibrosis↗
PubMed1988

[The possibility of modern segregation analysis to discriminate monogenic and multifactorial types of the inheritance of traits. The reliability of models and the power of the analysis].

Using computer simulation of family data sets within segregation analysis limits the comparative research of the autosomal major locus model (MLM) and the multifactorial model (MFM) which described the basic types of inheritance of the alternative traits (affected--nonaffected) has been conducted. Robustness of models (statistical aspect) and the power of the analysis (its possibility to discriminate MLM and MFM) are tested. It is shown that permissible level of relative errors for estimated population's frequency is increased, when the values of parameters of models are increased (with decrease of sporadic cases' portion). The power of the analysis is the greatest in the field of greatest robustness of models: the higher the parameters of models, the portion of sporadic cases being low, the stronger the power of the analysis. MFM satisfactorily describes family distribution given by additive MLM. On the contrary, if the MLM corresponds to the multifactorial traits, this model is additive. It is shown that the possibility of the analysis to reject alternative model is decreased when determination of model grows down.

Genes↗
PubMed1988

[Complex medico-genetic study of the populations of western Siberia. IV. A multivariate statistical analysis of the interrelation of quantitative and polymorphic monogenic traits].

Multidimensional statistical analysis for a set of morpho- and physiological traits (anthropological, hemodynamic and biochemical) was done by the principal components method with interpretation of the latter. Special features of phenotype relationships were established for some traits of pathogenetic values for human chronic pathology. Heterogeneity of distributions of genotype frequencies for polymorphic traits and chromosome Q segments in histogramms of principal components was shown. The distributions are considered to be of nonrandom patterns and reflect common population genetics processes affecting both classes of traits under study.

Anthropometry↗
PubMed1988

[Possibility of the current segregation analysis to discriminate between monogenic and multifactorial types of inheritance of traits. The effect of the structure of family data on model robustness and power of the analysis].

The influence of sampling designs for robustness of the autosomal major locus model and the multifactorial model as well as possibility of segregation analysis to discriminate these models was studied. Nuclear families and 3-generation pedigrees were considered. It was found that robustness of models increased, when the size of sibships in nuclear families grows and when configuration of pedigrees is complicated. The resolution power of the analysis is always increased with size elevation of sibships, the highest effect of the analysis being observed for sibships of the size 3 or 4. Consideration of new generations is only advisable, if attracting sibs of these generations, the resolution power being increased, provided that the parameters of models are of high value.

Genetics, Population↗